Incidental Mutation 'IGL02801:Rnf220'
ID360186
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf220
Ensembl Gene ENSMUSG00000028677
Gene Namering finger protein 220
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.834) question?
Stock #IGL02801
Quality Score
Status
Chromosome4
Chromosomal Location117271463-117497052 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117273251 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 259 (C259Y)
Ref Sequence ENSEMBL: ENSMUSP00000152367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000062824] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000125943] [ENSMUST00000221654]
Predicted Effect probably damaging
Transcript: ENSMUST00000030439
AA Change: C517Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: C517Y

DomainStartEndE-ValueType
Pfam:RNF220 217 339 3.5e-38 PFAM
Pfam:RNF220 325 444 4.9e-51 PFAM
RING 514 552 1.62e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000062824
SMART Domains Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 34 270 4.1e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094853
AA Change: C304Y

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677
AA Change: C304Y

DomainStartEndE-ValueType
low complexity region 176 187 N/A INTRINSIC
RING 301 339 1.62e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102690
AA Change: C196Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
AA Change: C196Y

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
RING 193 231 1.62e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106433
SMART Domains Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 19 255 3.4e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106434
SMART Domains Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 41 277 1.3e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125943
SMART Domains Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772

DomainStartEndE-ValueType
Pfam:DUF829 19 252 5.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128122
SMART Domains Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
low complexity region 94 105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145836
Predicted Effect probably benign
Transcript: ENSMUST00000151829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221157
Predicted Effect probably damaging
Transcript: ENSMUST00000221654
AA Change: C259Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223182
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Bmi1 T C 2: 18,681,881 Y24H probably damaging Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null Het
Other mutations in Rnf220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Rnf220 APN 4 117307675 missense probably benign 0.02
IGL01345:Rnf220 APN 4 117273270 nonsense probably null
IGL02097:Rnf220 APN 4 117273327 missense probably benign 0.00
IGL02245:Rnf220 APN 4 117299537 splice site probably benign
IGL02366:Rnf220 APN 4 117489783 missense probably benign
IGL02725:Rnf220 APN 4 117272379 splice site probably benign
IGL02963:Rnf220 APN 4 117490192 missense probably damaging 0.97
BB007:Rnf220 UTSW 4 117307590 missense probably damaging 0.99
BB017:Rnf220 UTSW 4 117307590 missense probably damaging 0.99
PIT4131001:Rnf220 UTSW 4 117277369 critical splice donor site probably null
R0041:Rnf220 UTSW 4 117273284 missense probably damaging 1.00
R0784:Rnf220 UTSW 4 117277998 splice site probably benign
R1107:Rnf220 UTSW 4 117285390 missense probably damaging 1.00
R1122:Rnf220 UTSW 4 117278080 missense probably benign 0.01
R1231:Rnf220 UTSW 4 117489884 missense probably damaging 0.98
R1708:Rnf220 UTSW 4 117489886 missense probably benign 0.00
R1794:Rnf220 UTSW 4 117307568 missense probably benign
R4488:Rnf220 UTSW 4 117489814 missense probably damaging 1.00
R4710:Rnf220 UTSW 4 117289214 unclassified probably benign
R4790:Rnf220 UTSW 4 117289055 missense probably benign 0.45
R4923:Rnf220 UTSW 4 117489600 missense possibly damaging 0.71
R5173:Rnf220 UTSW 4 117289274 start gained probably benign
R5334:Rnf220 UTSW 4 117272351 missense probably damaging 1.00
R5505:Rnf220 UTSW 4 117296091 intron probably benign
R5849:Rnf220 UTSW 4 117277612 missense possibly damaging 0.92
R7075:Rnf220 UTSW 4 117285882 missense probably benign 0.28
R7349:Rnf220 UTSW 4 117277818 missense probably damaging 0.99
R7478:Rnf220 UTSW 4 117296136 missense possibly damaging 0.94
R7541:Rnf220 UTSW 4 117489930 missense probably damaging 1.00
R7930:Rnf220 UTSW 4 117307590 missense probably damaging 0.99
R8030:Rnf220 UTSW 4 117277828 missense probably damaging 1.00
R8202:Rnf220 UTSW 4 117489873 missense probably damaging 1.00
R8701:Rnf220 UTSW 4 117489993 missense probably damaging 0.99
Posted On2015-12-18